Newborn screening for certain treatable inborn errors of metabolism in Alexandria

The study was conducted on two groups of newborn infants: Group A; a random sample of 3000 infants attending different Health offices in Alexandria for BCG vaccination. Their ages ranged from 5-120 days with a mean age of 39.9 days. Group B; included all the infants born to high risk families attending the clinic of Human Genetics Department, Medical Research Institute (9 infants; 7 with family history of PKU and 2 with family history of congenital hypothyroidism). Their ages ranged from 7 to 60 days with a mean age of 18 days. The newborn infants of the two groups were screened for three treatable inborn errors of metabolism, phenylketonuria "PKU", galactosemia and congenital hypothyroidism with the aim of early detection and therapy to prevent mental retardation. In group A; one baby with transient hyperphenylalaninemia (HPA) (0.33%) and one presumptive case of galactosemia (0.33%) were found. Initial positive results were found in eleven infants they had high levels of thyroid stimulating hormone (TSH). On reevaluation of nine infants of them they were all euthyroids. In Group B, four infants were detected among the infants of PKU families. After confirmation of these results breast feeding was stopped at once and the infants started their dietary management and were kept on it with follow up and periodic evaluation of the adequacy of treatment.